Variant report

Variant	rs1295912
Chromosome Location	chr14:33176566-33176567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33170655..33172977-chr14:33175367..33177093,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10131793	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1013682	0.87[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes]
rs10149509	0.83[CEU][hapmap]
rs1040601	0.83[CEU][hapmap]
rs1296837	0.88[CEU][hapmap]
rs17440692	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs17440720	0.81[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2300831	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2300832	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs2300834	0.81[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2300837	0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2474642	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41285498	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4981999	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4982001	0.87[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4982002	0.87[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs73266957	0.94[AMR][1000 genomes]
rs73266980	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs981524	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33172200-33179600	Weak transcription	Colonic Mucosa	Colon
2	chr14:33172400-33177400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:33172600-33177800	Weak transcription	HSMMtube	muscle
4	chr14:33172600-33178000	Weak transcription	Left Ventricle	heart
5	chr14:33172600-33178000	Weak transcription	Right Ventricle	heart
6	chr14:33172600-33178000	Weak transcription	HMEC	breast
7	chr14:33172600-33191600	Weak transcription	Psoas Muscle	Psoas
8	chr14:33172800-33177000	Weak transcription	Fetal Heart	heart
9	chr14:33172800-33177200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:33172800-33177800	Weak transcription	NH-A	brain
11	chr14:33172800-33177800	Weak transcription	Osteobl	bone
12	chr14:33172800-33178000	Weak transcription	Fetal Brain Male	brain
13	chr14:33172800-33178000	Weak transcription	HSMM	muscle
14	chr14:33173000-33177200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:33173000-33178000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:33173000-33178000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:33173000-33178000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:33173000-33178000	Weak transcription	Ovary	ovary
19	chr14:33173000-33179600	Weak transcription	Right Atrium	heart
20	chr14:33173000-33180200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:33173200-33177400	Weak transcription	NHLF	lung
22	chr14:33173200-33177800	Weak transcription	Fetal Lung	lung
23	chr14:33173200-33178000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:33173200-33178400	Weak transcription	Fetal Brain Female	brain
25	chr14:33173200-33194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:33173400-33177200	Weak transcription	Brain Anterior Caudate	brain
27	chr14:33173400-33177200	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:33173400-33177400	Weak transcription	Brain Angular Gyrus	brain
29	chr14:33173400-33177400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:33173400-33177400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:33173400-33177800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:33173400-33177800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:33173400-33177800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:33173600-33177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:33174600-33177200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:33175000-33177000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:33175800-33177400	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:33175800-33177400	Weak transcription	Fetal Stomach	stomach
39	chr14:33176000-33177200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:33176000-33178200	Weak transcription	Aorta	Aorta
41	chr14:33176200-33177200	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:33176200-33177200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:33176200-33177400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:33176400-33176800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:33176400-33176800	Weak transcription	NHDF-Ad	bronchial
46	chr14:33176400-33178000	Weak transcription	Stomach Smooth Muscle	stomach

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